|Institutional Source||Beutler Lab|
|Gene Name||C-type lectin domain family 14, member a|
|Is this an essential gene?||Probably non essential (E-score: 0.051)|
|Stock #||R5489 (G1)|
|Chromosomal Location||58264720-58269290 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 58268249 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 196 (F196L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054451 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000062254]|
|Predicted Effect||probably damaging
AA Change: F196L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: F196L
|Meta Mutation Damage Score||0.298|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
PHENOTYPE: No notable pheontype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clec14a||
(F):5'- GGTGAAGTCTCCCAAGTGATC -3'
(R):5'- TACAGTGAGAAAGTGCGCTGC -3'
(F):5'- GTGAAGTCTCCCAAGTGATCTAGAC -3'
(R):5'- CGCTCCAGGCCACCAGG -3'